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首页> 外文期刊>American journal of medical genetics, Part A >Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu

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Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu

机译：COL2A1基因的致病性变异与脊椎骨赘发育不良型Stanescu相关

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来源
《American journal of medical genetics, Part A》 |2016年第1期|共4页
作者
Hammarsjo Anna; Nordgren Ann; Lagerstedt-Robinson Kristina; Malmgren Helena; Nilsson Daniel; Wedren Sara; Nordenskjold Magnus; Nishimura Gen; Grigelioniene Giedre;
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正文语种 eng
中图分类医学遗传学;
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1. Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu [J] . Hammarsjo Anna, Nordgren Ann, Lagerstedt-Robinson Kristina, American journal of medical genetics, Part A . 2016,第1期

机译：COL2A1基因的致病性变异与脊椎骨赘发育不良型Stanescu相关
2. Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type. [J] . Nishimura G, Saitoh Y, Okuzumi S, Skeletal radiology . 1998,第4期

机译：软骨细胞骨赘发育不良，软骨细胞中糖蛋白堆积：脊椎骨赘生物发育不良，Stanescu型。
3. Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita [J] . Wen‐bin Zheng, Lu‐jiao Li, Di‐chen Zhao, Molecular Genetics & Genomic Medicine . 2020,第3期

机译：Col2a1中的新型变体导致罕见的脊椎心肌发育不良同胞
4. G PROTEIN-COUPLED RECEPTOR KINASE TYPE 4 (GRK4) GENE VARIANTS AND RESPONSE TO ANGIOTENSIN II TYPE 1 RECEPTOR BLOCKER THERAPY [C] . Hironobu Sanada, Junichi Yatabe, Midori Sasaki Yatabe, 9th International Symposium on Salt(第九届世界盐业大会）论文集 . 2009

机译：G蛋白偶联的4型受体激酶（GRK4）基因变异和对血管紧张素II 1型受体阻滞剂的反应
5. Significance of the wingless-type/beta-catenin signaling cascade for cancer risk in inflammatory bowel disease: Association of genetic polymorphism in human dishevelled 1 with dysplasia in ulcerative colitis. [D] . Uthoff, Sonja Martina Stefanie. 2004

机译：无翼型/β-连环蛋白信号传导级联对于炎症性肠病的癌症风险的意义：人类衣衫不整的1的遗传多态性与溃疡性结肠炎的不典型增生相关。
6. Novel COL2A1 variant (c.619GA p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia Stanescu type [O] . Julie Jurgens, Nara Sobreira, Peggy Modaff, -1

机译：新的COL2A1变体（c.619G Ap.Gly207Arg）表现出与进行性假性类风湿性增生和脊柱骨干phy发育不良（Stanescu型）相似的表型
7. NovelCOL2A1Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type [O] . Julie Jurgens, Nara Sobreira, Peggy Modaff, 2015

机译：Noveccol2a1 variant（c.619g> a，p.gly207arg）作为类似于渐进式伪素质异常发育不良和脊柱型心肌发育不良的表型，Stanescu型

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